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Metab Brain Dis
January 2025
Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul, Avenida Ipiranga, 2752, Porto Alegre, CEP 90610-000, RS, Brazil.
Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically follow a phenylalanine-free diet supplemented with a synthetic formula that provides essential amino acids, including L-carnitine.
View Article and Find Full Text PDFSleep Breath
January 2025
Department of Pulmonary and Critical Care Medicine, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, No.1 Da Hua Road, Dong Dan, Dongcheng District, Beijing, 100730, PR China.
Purpose: To investigate the relationship between obstructive sleep apnea hypopnea syndrome (OSAHS) severity and fat, bone, and muscle indices.
Methods: This study included 102 patients with OSAHS and retrospectively reviewed their physical examination data. All patients underwent polysomnography, body composition analysis, dual-energy X-ray absorptiometry, computed tomography (CT) and blood test.
Arch Dermatol Res
January 2025
Department of Dermatology, Venereology, and Sexology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
Alopecia areata (AA) is an autoimmune condition marked by hair loss, linked to inflammatory processes involving the interleukin-1 receptor type 1 (IL-1R1) pathway. This study aims to explore the relationship between IL-1R1 gene expression, serum IL-1R1 levels, and hsa-miR-19b-3p in relation to AA severity. Using a case-control design, we assessed 100 AA patients and 100 healthy controls, measuring serum IL-1R1 through enzyme-linked immunosorbent assay (ELISA) and analyzing IL-1R1 gene and hsa-miR-19b-3p expression levels via quantitative real-time PCR (qRT-PCR).
View Article and Find Full Text PDFEur Radiol
January 2025
Department of Ultrasound, The First Medical Center, Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing, 100853, China.
Objective: To compare the clinical outcomes of patients with unifocal paratracheal papillary thyroid microcarcinoma (PTMC) after thermal ablation (TA) vs. partial thyroidectomy (PT).
Materials And Methods: This retrospective multicenter study included 436 patients with unifocal, clinical N0 paratracheal PTMC who underwent TA (210 patients) or PT (236 patients) between June 2014 and December 2020.
Blood Adv
January 2025
University of North Carolina at Chapel Hill, CHAPEL HILL, North Carolina, United States.
A wealth of research focused on African American populations has connected rs2814778-CC ("Duffy-null") to decreased neutrophil (neutropenia) and leukocyte counts (leukopenia). While it has been proposed that this variant is benign, prior studies have shown that the misinterpretation of Duffy-null associated neutropenia and leukopenia can lead to unnecessary bone marrow biopsies, inequities in cytotoxic and chemotherapeutic treatment courses, under-enrollment in clinical trials, and other disparities. To investigate the phenotypic correlates of Duffy-null status, we conducted a phenome-wide association study (PheWAS) across more than 1,400 clinical conditions in All of Us, the Vanderbilt University Medical Center's Biobank, and the Million Veteran Program.
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